Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that in humans is encoded by the DLD gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

. DLD is a flavoprotein

Flavoprotein

Flavoproteins are proteins that contain a nucleic acid derivative of riboflavin: the flavin adenine dinucleotide or flavin mononucleotide ....

 enzyme that degrades lipoamide

Lipoamide

Lipoamide is a trivial name for 6,8-dithiooctanoic amide. It is 6,8-dithiooctanoic acid's functional form where the carboxyl group is attached to protein by an amide linkage . Sometimes lipoamide is used to refer to protein bound lipoic acid, but this can be misleading as this is technically...

, and produces dihydrolipoamide

Dihydrolipoamide

Dihydrolipoamide is a molecule produced by the action of dihydrolipoyl dehydrogenase upon lipoamide....

.

Function

This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex.

Clinical significance

Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease

Maple syrup urine disease

Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...

 and lipoamide dehydrogenase deficiency.

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